rs104894445, GCH1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperphenylalaninemia, BH4-Deficient, B
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
0.800 CausalMutation CLINVAR Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. 27246466 2017
Hyperphenylalaninemia, BH4-Deficient, B
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
0.800 GeneticVariation UNIPROT Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588 1998
Hyperphenylalaninemia, BH4-Deficient, B
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. 7501255 1995
Dopa-Responsive Dystonia
CUI: C1851920
Disease: Dopa-Responsive Dystonia
0.020 GeneticVariation BEFREE All other family members harboring one of these GCH1 variants were asymptomatic except for one (heterozygous for p.R184H) who was diagnosed with DRD. 30911941 2019
Dopa-Responsive Dystonia
CUI: C1851920
Disease: Dopa-Responsive Dystonia
0.020 GeneticVariation BEFREE We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5'-triphosphate cyclohydrolase I (GCH-I). 15133828 2004